Pathomechanism of neonatal hyperbilirubinemia: the relationship between genetics and nutrition

• Project/Area Number: 25860903
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Embryonic/Neonatal medicine
• Research Institution: Yamagata University
• Principal Investigator: SATO Hiroko 山形大学, 医学部, 医員 (10594301)
• Project Period (FY): 2013-04-01 – 2015-03-31
• Project Status: Completed (Fiscal Year 2014)
• Budget Amount: ¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000); Fiscal Year 2014: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000); Fiscal Year 2013: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
• Keywords: 高ビリルビン血症 / UGT1A1 / OATP / 母乳栄養 / 新生児高ビリルビン血症

Outline of Final Research Achievements

Neonates have physiologically increased bilirubin production and immature bilirubin metabolism. We previously reported that UGT1A1 211G>A genotype becomes a risk factor under conditions of inadequate feeding. We extended the study to the association of solute-carrier organic anion transporters (SLCOs) polymorphisms with neonatal hyperbilirubinemia. We enrolled infants who were exclusively breastfeeding and classified them into two groups based on the degree of maximal body weight loss. Statistical analysis revealed that maximal body weight loss is the only independent risk factor for the development of neonatal hyperbilirubinemia. UGT1A1, SLCO1B1and SLCO1B3 polymorphisms become risk factors in neonates showing 10% or greater body weight loss during the neonatal period. Inadequate feeding may increase the bilirubin burden and cause apparent hyperbilirubinemia in neonates, who have a polymorphic change in the genes involved in the transport and/or metabolism of bilirubin.

Research Products

• [Journal Article] Association of neonatal hyperbilirubinemia in breast-fed infants with UGT1A1 or SLCOs polymorphisms. (2015)
  • Author(s): Sato H, Uchida T, Toyota K, Nakamura T, Tamiya G, Kanno M, Hashimoto T, Watanabe M, Aoki K, Hayasaka K.
  • Journal Title: J Hum Genet Volume: 60 Issue: 1 Pages: 35-40
  • DOI: 10.1038/jhg.2014.98
  • Peer Reviewed / Open Access
• [Journal Article] Association of breast-fed neonatal hyperbilirubinemia with UGT1A1 polymorphisms: 211G>A (G71R) mutation becomes a risk factor under inadequate feeding (2013)
  • Author(s): Sato H, Uchida T, Toyota K, Kanno M, Hashimoto T, Watanabe M, Nakamura T, Tamiya G, Aoki K, Hayasaka K.
  • Journal Title: J Hum Genet Volume: 58(1) Issue: 1 Pages: 7-10
  • DOI: 10.1038/jhg.2012.116
  • NAID: 10031145893
  • Peer Reviewed
• [Presentation] 母乳栄養児の新生児高ビリルビン血症-体重減少率およびUGT1A1遺伝子多型との関連-.
  • Author(s): 佐藤 裕子
  • Organizer: 第116回日本小児科学会総会
  • Place of Presentation: 広島国際会議場(広島)
• [Presentation] Association of breast-fed neonatal hyperbilirubinemia with UGT1A1 polymorphisms: Adequate feeding may overcome the effect of 211G > A (G71R) mutation.
  • Author(s): 佐藤 裕子
  • Organizer: The 3rd Asian Congress for Inherited Metabolic Disease(ACIMD)
  • Place of Presentation: 東京ベイ舞浜ホテルクラブリゾート(千葉)